Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
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DOI: 10.1002/mgg3.511
Abstract: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS‐like) do… read more here.
Keywords: novo splicing; variant coffin; splicing variant; coffin siris ... See more keywords
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing
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DOI: 10.1038/s10038-018-0489-9
Abstract: Noninvasive prenatal testing (NIPT), which involves analysis of circulating cell-free fetal DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental chromosome aneuploidy. However, recent studies suggested that coverage-based shallow-depth NIPT cannot accurately detect… read more here.
Keywords: noninvasive prenatal; osteogenesis imperfecta; prenatal testing; identification novo ... See more keywords
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
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DOI: 10.1038/s10038-018-0559-z
Abstract: Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of… read more here.
Keywords: csnk2a1 csnk2b; csnk2b variants; novo variants; identification novo ... See more keywords
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts
Sign Up to like & getrecommendations! Published in 2020 at "Translational Psychiatry"
DOI: 10.1038/s41398-020-00987-z
Abstract: Schizophrenia (SCZ) is a severe psychiatric disorder with a strong genetic component. High heritability of SCZ suggests a major role for transmitted genetic variants. Furthermore, SCZ is also associated with a marked reduction in fecundity,… read more here.
Keywords: neurodevelopment; scz; novo mutations; mutations prenatal ... See more keywords